Publications by authors named "Laila Effat"

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X-Linked Hydrocephalus with New Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Rania R Ahmed, Amina M Medhat, Germine M Hamdy, Laila K E Effat, Mohamed S Abdel-Hamid

Mol Syndromol· August 2023

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Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Mohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, Suzan R Ismail, Lubna M Desouky, Mahmoud Y Issa, Laila K Effat

Clin Genet· November 2020

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Ghada M H Abdel-Salam, Inas S M Sayed, Hanan H Afifi, Sherif F Abdel-Ghafar, Maha R Abouzaid, Laila K Effat

Am J Med Genet A· June 2020

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Genetic Susceptibility in Family Members of Egyptian Hepatitis C Virus Infected Patients: Role of Interleukin-12 B Gene Polymorphism.
Nadia Elwan, Fathia Assal, Asem Elfert, Lobna AboAli, Shaimaa Soliman, Laila Effat

Infect Disord Drug Targets· June 2019

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Endothelial nitric oxide synthase gene (T786C and G894T) polymorphisms in Egyptian patients with type 2 diabetes.
Omneya Moguib, Hala M Raslan, Inas Abdel Rasheed, Laila Effat, Nadia Mohamed

J Genet Eng Biotechnol· December 2017

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Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Laila Effat

Metab Brain Dis· June 2017

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Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Samira I Ismail, Heba Hosny, Tarek Omar, Laila Effat

Metab Brain Dis· October 2016

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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Mohamed S Abdel-Hamid, Manal F Ismail, Hebatallh A Darwish, Laila K Effat, Maha S Zaki

Am J Med Genet A· August 2016

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C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population.
Ingy M Hashad, Mohamed F Abdel Rahman, Sahar M Abdel-Maksoud, Khalda S Amr, Laila K Effat

Mol Biol Rep· December 2014

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Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet.
Hala M Koura, Sherif M Zaki, Nagwa A Ismail, Emad E Salama, Dalia H El Lebedy, Laila K Effat

Iran J Pediatr· February 2014

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Laila Effat

Lancet Neurol· December 2013

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Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Nihal A Hassan, Mahmoud Y Issa, Laila Effat

Am J Med Genet A· August 2013

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Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Sahar N Saleem, Mahmoud K H Ahmed, Mahmoud Issa, Laila K Effat

Am J Med Genet A· August 2012

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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Ghada M H Abdel-Salam, Noriko Miyake, Maha M Eid, Mohamed S Abdel-Hamid, Nihal A Hassan, Laila K Effat

Am J Med Genet A· November 2011

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A long-term study of bone mineral density in patients with phenylketonuria under diet therapy.
Hala M Koura, Nagwa Abdallah Ismail, Ashraf F Kamel, Azza M Ahmed, Amal Saad-Hussein, Laila K Effat

Arch Med Sci· June 2011

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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
Ghada M H Abdel-Salam, Laura Flores-Sarnat, Mona O El-Ruby, Jillian Parboosingh, Peter Bridge, Laila Effat

Am J Med Genet A· January 2011

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Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria.
Ahmed M Abdel-Salam, Laila K Effat

N Am J Med Sci· February 2010

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